Introduction: Population screening could identify clinically underdiagnosed celiac disease (CeD). We studied combined genetic screening for CeD and type 1 diabetes (T1D) in newborn infants and the development of autoantibodies and clinical CeD in early life.
Methods: Children with HLA susceptibility for CeD and/or T1D were invited to repeated screening for tissue transglutaminase autoantibodies (tTGAb) at age 1–3 years. Endomysial antibodies (EmA) were analyzed in tTGAb positive children. If both autoantibodies were positive, child was referred to pediatric gastroenterology. CeD diagnoses were collected from medical registries by age 4–6. tTGAb positive and negative children were compared.
Results: 9,797 newborn infants participated in the screening and 2,446 (25.0%) carried HLA risk. tTGAb were analyzed from 1,652 (67.5%) at-risk children and 59 (3.6%) were positive. Thirty-one (1.9%) had also positive EmA. Median age at first tTGAb positivity was 3.1 years (IQR 2.1, 3.2; range 1.0–3.5). tTGA positive compared to negative children presented more often with HLA risk for both CeD and T1D (28.8% vs 16.4%, p=0.021) and showed slightly greater median weight (13.1 vs 12.5 kg, p=0.041) and waist circumference (48.9 vs 48.0 cm, p=0.034) at age 24 months. The groups did not differ in other anthropometrics through age 3, sex or perinatal characteristics. Twenty-four genetically at-risk children were diagnosed with CeD. Of them, 21 participated tTGAb screening, 15 with positive and six with negative tTGAb. Median age at CeD diagnosis was 3.4 years (IQR 2.6, 3.8; range 1.1–5.0) and 20 (83.3%) were girls. Nineteen (79.2%) CeD diagnoses were established according to the no-biopsy criteria. Eight (33.3%) children had abdominal complaints, 5 (23.8%) anemia and none growth impairment. No child had concomitant T1D.
Conclusions: Genetic screening enabled targeting of later screening efforts on a quarter of population. Clinical signs of CeD were modest in young children.